Variant report

Variant	rs558041580
Chromosome Location	chr4:88128527-88128528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88125915..88129051-chr4:88140439..88142912,3	MCF-7	breast:
2	chr4:88127634..88129911-chr4:88140164..88142825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv966294	chr4:88128442-88130306	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88081800-88140200	Weak transcription	Aorta	Aorta
2	chr4:88082000-88129200	Weak transcription	Esophagus	oesophagus
3	chr4:88089600-88131000	Weak transcription	Ovary	ovary
4	chr4:88091800-88128600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:88091800-88133600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:88092200-88134800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:88097600-88140400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:88109600-88133600	Weak transcription	Fetal Lung	lung
9	chr4:88114600-88129000	Weak transcription	K562	blood
10	chr4:88115800-88131000	Weak transcription	Gastric	stomach
11	chr4:88116400-88138000	Weak transcription	HepG2	liver
12	chr4:88119400-88132600	Weak transcription	Psoas Muscle	Psoas
13	chr4:88121200-88130400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:88121200-88134600	Weak transcription	Pancreas	Pancrea
15	chr4:88122400-88140000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:88124800-88129400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:88125400-88134600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:88125400-88134800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:88125400-88140200	Weak transcription	Fetal Intestine Large	intestine
20	chr4:88125600-88130200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:88125600-88134600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:88125800-88134600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:88126000-88132800	Weak transcription	Fetal Heart	heart
24	chr4:88126600-88128600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:88126800-88130400	Weak transcription	Adipose Nuclei	Adipose
26	chr4:88126800-88130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:88126800-88140000	Weak transcription	Fetal Stomach	stomach
28	chr4:88127200-88140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:88127400-88129200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:88127400-88130000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:88127600-88128800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:88127600-88129000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:88127800-88132200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:88128000-88128600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:88128000-88128600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:88128000-88128800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr4:88128000-88128800	Strong transcription	Brain Germinal Matrix	brain
38	chr4:88128000-88128800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr4:88128000-88129200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:88128000-88129600	Strong transcription	Primary T cells from cord blood	blood
41	chr4:88128000-88130200	Weak transcription	Primary B cells from cord blood	blood
42	chr4:88128200-88128600	Weak transcription	Lung	lung
43	chr4:88128200-88129000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:88128200-88129000	Strong transcription	Spleen	Spleen
45	chr4:88128200-88129400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:88128200-88129800	Strong transcription	Fetal Intestine Small	intestine
47	chr4:88128200-88130200	Weak transcription	Fetal Brain Female	brain
48	chr4:88128400-88129000	Enhancers	Right Ventricle	heart
49	chr4:88128400-88130400	Weak transcription	Liver	Liver
50	chr4:88128400-88130400	Weak transcription	Rectal Mucosa Donor 29	rectum

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